Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Acidosis (HP:0001941)

Parent Node:
Lactic acidosis (HP:0003128)

..Starting node
..Intermittent lactic acidemia (HP:0004913)

Term ID:

4913

Name:

Intermittent lactic acidemia

Synonym:

Definition:

An intermittent (discontinuous) form of lactic acidemia.

Comments:

Reference:

HP:0004913

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic lactic acidosis (HP:0004925)

Congenital lactic acidosis (HP:0004902)

Exercise-induced lactic acidemia (HP:0004901)

Lacticaciduria (HP:0003648)

Persistent lactic acidosis (HP:0004898)

Severe lactic acidosis (HP:0004900)

Stress/infection-induced lactic acidosis (HP:0004897)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004913	HP:0004913	Intermittent lactic acidemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0004913	HP:0004913	Intermittent lactic acidemia	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional	71
HP:0004913	HP:0004913	Intermittent lactic acidemia	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.

Genes (3) :FBP1 PYGL TAFAZZIN

Diseases (3) :ORPHA:348 ORPHA:369 OMIM:302060

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.